Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic background of apparently idiopathic sporadic cerebellar ataxia.

Human genetics - 1 Aug 2000

Schöls L, Szymanski S, Peters S, Przuntek H, Epplen J T, Hardt C, Riess O

Abstract excerpt

Disease-causing mutations have been identified in various entities of autosomal dominant ataxia and in Friedreich's ataxia. However, no molecular pathogenic factor is known to cause idiopathic cerebellar ataxias. We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia types 1, 2, 3, 6, 7, 8 and 12, and the GAA repeat of the frataxin gene in 124 patients apparently suffering from...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Ataxins
Share to Calcium Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellar Ataxia

Share to Friedreich Ataxia

Share to Nerve Tissue Proteins

Share to Proteins

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 11030410
DOI: 10.1007/s004390000346

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic background of apparently idiopathic sporadic cerebellar ataxia.PMID 11030410Read ↗

Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations.Semantic proximity Read ↗

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.Semantic proximity Read ↗

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.Semantic proximity Read ↗

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes.Semantic proximity Read ↗

CAG repeat expansions in patients with sporadic cerebellar ataxiaSemantic proximity Read ↗

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia familiesSemantic proximity Read ↗

Clinical and molecular features of spinocerebellar ataxia type 6.Semantic proximity Read ↗

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).Semantic proximity Read ↗

Clinical and genetic analysis of hereditary and sporadic ataxia in central Italy.Semantic proximity Read ↗

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansionSemantic proximity Read ↗

Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI.Semantic proximity Read ↗

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.